FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term xeroderma pigmentosum ID (Ontology) DOID:0050427 (Human Disease)
Definition A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.
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Annotations
Records annotated with this term OR any of its CHILD TERMS
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS      11
Human Disease Models (FBhh)  DOID       1
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 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes Human Disease Models
 xeroderma pigmentosum      11      4      1
 ameliorates | xeroderma pigmentosum       1       --       --
 model of | xeroderma pigmentosum      10       --       --
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 xeroderma pigmentosum  23 rec.
                                  |__De Sanctis-Cacchione syndrome
                                  |__xeroderma pigmentosum group A 1 rec.
                                  |__xeroderma pigmentosum group B 2 rec.
                                  |__xeroderma pigmentosum group C 1 rec.
                                  |__xeroderma pigmentosum group D 2 rec.
                                  |__xeroderma pigmentosum group E
                                  |__xeroderma pigmentosum group F 1 rec.
                                  |__xeroderma pigmentosum group G 1 rec.
                                  |__xeroderma pigmentosum variant type 2 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
Secondary IDs
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GARD:7910
ICD10CM:Q82.1
MESH:D014983
NCI:C3452
ORDO:910
SNOMEDCT_US_2023_03_01:44600005
UMLS_CUI:C0043346